Canonical Allele Identifier: CA2622328947

Gene: SACS

Linked Data

• gnomAD v4: 13-23333496-TTTTAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333498_23333503del , CM000675.2:g.23333498_23333503del	GRCh38
NC_000013.10:g.23907637_23907642del , CM000675.1:g.23907637_23907642del	GRCh37
NC_000013.9:g.22805637_22805642del	NCBI36
NG_012342.1:g.105201_105206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+20283_2185+20288del	ENSP00000508399.1:n.2185+20283_2185+20288del
ENST00000682944.1:c.10401_10406del	ENSP00000507173.1:p.His3467_Lys3469delinsGln
ENST00000683210.1:c.2185+20283_2185+20288del	ENSP00000506739.1:n.2185+20283_2185+20288del
ENST00000683270.1:c.6445+3920_6445+3925del	ENSP00000507624.1:n.6445+3920_6445+3925del
ENST00000683367.1:c.2177-4018_2177-4013del	ENSP00000507780.1:n.2177-4018_2177-4013del
ENST00000683489.1:c.2292-3550_2292-3545del	ENSP00000508403.1:n.2292-3550_2292-3545del
ENST00000683680.1:c.2319-3550_2319-3545del	ENSP00000507223.1:n.2319-3550_2319-3545del
ENST00000684163.1:c.2204-4018_2204-4013del	ENSP00000508262.1:n.2204-4018_2204-4013del
ENST00000684196.1:n.4543-4018_4543-4013del
ENST00000684325.1:c.2186-11828_2186-11823del	ENSP00000508121.1:n.2186-11828_2186-11823del
ENST00000684385.1:c.2221-4018_2221-4013del	ENSP00000507855.1:n.2221-4018_2221-4013del
ENST00000684497.1:c.2186-10858_2186-10853del	ENSP00000507057.1:n.2186-10858_2186-10853del
ENST00000382292.9:c.10374_10379del MANE Select	ENSP00000371729.3:p.His3458_Lys3460delinsGln
ENST00000423156.2:c.2186-4018_2186-4013del	ENSP00000390925.2:n.2186-4018_2186-4013del
ENST00000455470.6:c.2432-4018_2432-4013del	ENSP00000406565.2:n.2432-4018_2432-4013del
ENST00000382292.7:c.10374_10379del	ENSP00000371729.3:p.His3458_Lys3460delinsGln
ENST00000382298.7:c.10374_10379del	ENSP00000371735.3:p.His3458_Lys3460delinsGln
ENST00000402364.1:c.8124_8129del	ENSP00000385844.1:p.His2708_Lys2710delinsGln
ENST00000423156.1:c.1058-4018_1058-4013del	ENSP00000390925.1:n.1058-4018_1058-4013del
ENST00000455470.5:c.2130-4018_2130-4013del
NM_001278055.1:c.9933_9938del	NP_001264984.1:p.His3311_Lys3313delinsGln
NM_014363.5:c.10374_10379del	NP_055178.3:p.His3458_Lys3460delinsGln
XM_005266338.1:c.10401_10406del	XP_005266395.1:p.His3467_Lys3469delinsGln
XM_011535038.1:c.10425_10430del	XP_011533340.1:p.His3475_Lys3477delinsGln
XM_011535039.1:c.10392_10397del	XP_011533341.1:p.His3464_Lys3466delinsGln
XM_005266338.2:c.10401_10406del	XP_005266395.1:p.His3467_Lys3469delinsGln
XM_011535039.2:c.10392_10397del	XP_011533341.1:p.His3464_Lys3466delinsGln
XM_017020539.1:c.10365_10370del	XP_016876028.1:p.His3455_Lys3457delinsGln
XM_024449337.1:c.10401_10406del	XP_024305105.1:p.His3467_Lys3469delinsGln
NM_014363.6:c.10374_10379del MANE Select	NP_055178.3:p.His3458_Lys3460delinsGln
NM_001278055.2:c.9933_9938del	NP_001264984.1:p.His3311_Lys3313delinsGln